Product Details

SNP ID
rs77893880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:113442827 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAATCAAGATTTTCCAGGGCTTAA[A/C]AAAATGATTATCCTTGCTATTACTT
Phenotype
MIM: 613447
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CFAP44 PubMed Links

Gene Details

Gene
CFAP44
Gene Name
cilia and flagella associated protein 44
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164496.1 5339 Intron NP_001157968.1
NM_018338.3 5339 Intron NP_060808.2
XM_005247617.3 5339 Intron XP_005247674.1
XM_006713696.2 5339 Intron XP_006713759.1
XM_011512977.2 5339 Intron XP_011511279.1
XM_011512978.2 5339 Intron XP_011511280.1
XM_011512979.2 5339 Intron XP_011511281.1
XM_011512980.2 5339 Intron XP_011511282.1
XM_011512981.1 5339 Intron XP_011511283.1
XM_011512982.2 5339 Intron XP_011511284.1
XM_011512983.2 5339 Intron XP_011511285.1
XM_011512984.2 5339 Intron XP_011511286.1
XM_017006842.1 5339 Intron XP_016862331.1
XM_017006843.1 5339 Intron XP_016862332.1
XM_017006844.1 5339 Intron XP_016862333.1
XM_017006845.1 5339 Intron XP_016862334.1
XM_017006846.1 5339 Intron XP_016862335.1
XM_017006847.1 5339 Intron XP_016862336.1
XM_017006848.1 5339 Intron XP_016862337.1
XM_017006849.1 5339 Intron XP_016862338.1
Gene
CFAP44-AS1
Gene Name
CFAP44 antisense RNA 1
There are no transcripts associated with this gene.

Gene
SPICE1
Gene Name
spindle and centriole associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144718.3 5339 UTR 3 NP_653319.1
XM_011512461.2 5339 Intron XP_011510763.1
XM_017005775.1 5339 Intron XP_016861264.1
XM_017005776.1 5339 Intron XP_016861265.1
XM_017005777.1 5339 Intron XP_016861266.1
XM_017005778.1 5339 Intron XP_016861267.1

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